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A novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome

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Abstract

Aim: To perform a genetic screening for the multiple endocrine neoplasia type 1 (MEN1) gene mutations in patients affected by an apparently sporadic form of the disease, referred to an internal medicine unit of a large general hospital. Subjects and methods: In a group of 12 consecutive patients presenting clinical features of MEN type 1 syndrome, we performed a genetic screening for germline MEN1 gene mutations, including complete sequencing of the coding region (exons 2 to 10) and multiplex ligation-dependent probe amplification analysis for large deletion detection. Results: Among these patients affected by apparently sporadic MEN type 1 syndrome, a targeted clinical history could detect indirect support for a diagnosis of familial condition only in 2 cases. The genetic screening identified pathogenic germline MEN1 gene mutations in 3 patients (25%). A previously unknown 18 base-pair deletion within exon 3, c.564_581 delCAATGGGGAGCAGACAGC, resulting in loss of 6 amino acids (pAsp189_Ala194del), was found in heterozygosis in a woman affected by primary hyperparathyroidism and multifocal pancreatic neoplasia. Conclusions: Our results underscore the importance of performing genetic testing also in apparently sporadic MEN1 patients and extend the list of molecular variants leading to inactivation of the MEN1 gene.

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Authors and Affiliations

  1. Internal Medicine Division, I Medicina Spedali Civili di Brescia, University of Brescia, Piazzale Spedali Civili 1, 25123, Brescia, Italy

    M. Giacché MD, M. C. Tacchetti, E. Agabiti Rosei & M. Castellano

  2. Molecular Medicine Laboratory, University of Brescia - Spedali Civili of Brescia, Brescia, Italy

    A. Panarotto, L. Mori & M. Castellano

  3. Endocrine and Metabolic Disease Unit, Department of Medical and Surgical Sciences, University of Brescia - Spedali Civili of Brescia, Brescia, Italy

    L. Daffini, I. Pirola & M. Castellano

Authors
  1. M. Giacché MD
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  2. A. Panarotto
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  3. L. Mori
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  4. L. Daffini
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  5. M. C. Tacchetti
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  7. E. Agabiti Rosei
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  8. M. Castellano
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Correspondence to M. Giacché MD.

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Giacché, M., Panarotto, A., Mori, L. et al. A novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome. J Endocrinol Invest 35, 124–128 (2012). https://doi.org/10.1007/BF03345419

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